Establishing the correct diagnosis of MNGIE disease may help avoid unnecessary exploratory abdominal surgeries, risks associated with anesthesia, and inappropriate therapies. Cooperation among multiple specialties including neurology, medical genetics, nutrition, gastroenterology, pain management, psychiatry, and physical/occupational therapy can help with earlier detection and treatment of the various aspects of multi-organ
dysfunction that can occur in individuals with MNGIE syndrome. However, once symptoms appear, treatment is generally supportive.
Management of gastrointestinal (GI) dysfunction can include: early attention to swallowing difficulties and airway protection, especially in severely affected individuals; dromperidone for nausea and vomiting; celiac plexus or splanchnic nerve block to reduce abdominal pain; nutritional support such as bolus feedings, gastrostomy tube placement, and total parenteral nutrition
therapy for intestinal bacterial overgrowth; and medication regimens that may include morphine, amitriptyline, gabapentin, and phenytoin for relief of neuropathic symptoms. Special schooling arrangements are often necessary. Physical therapy
and occupational therapy may help preserve mobility.
It is generally recommended that individuals with MNGIE syndrome avoid drugs that interfere with mitochondrial function including valproate, phenytoin, chloramphenicol, tetracycline, and certain antipsychotic medications.
There are some therapies for MNGIE syndrome under investigation, such as attempting to normalize the concentrations of thymidine inside the cells to reduce the rate of the mitochondrial DNA
damage, which progressively increases in an individual over time. Possible future treatments may include decreasing plasma thymidine concentration by reducing renal reabsorption of thymidine, by dialysis
, and by enzyme replacement therapy (ERT).
Last updated: 6/6/2011
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